Canonical Allele Identifier: CA2639263603

Gene: ACE

Linked Data

• gnomAD v4: 17-63488518-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.63488518G>C , CM000679.2:g.63488518G>C	GRCh38
NC_000017.10:g.61565879G>C , CM000679.1:g.61565879G>C	GRCh37
NC_000017.9:g.58919611G>C	NCBI36
NG_011648.1:g.16446G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000290866.10:c.2306-130G>C MANE Select	ENSP00000290866.4:n.2306-130G>C
ENST00000290863.10:c.584-130G>C	ENSP00000290863.6:n.584-130G>C
ENST00000290866.9:c.2306-130G>C	ENSP00000290866.4:n.2306-130G>C
ENST00000413513.7:c.584-130G>C	ENSP00000392247.3:n.584-130G>C
ENST00000428043.5:c.2306-130G>C	ENSP00000397593.2:n.2306-130G>C
ENST00000577647.2:c.584-130G>C	ENSP00000464149.1:n.584-130G>C
ENST00000578839.5:c.*376-130G>C	ENSP00000462110.2:n.*376-130G>C
ENST00000579204.1:c.487-52G>C	ENSP00000464629.1:n.487-52G>C
ENST00000579314.5:c.584-52G>C	ENSP00000462599.1:n.584-52G>C
ENST00000582005.5:c.*226-130G>C	ENSP00000462002.1:n.*226-130G>C
ENST00000582761.1:c.74-130G>C	ENSP00000462909.1:n.74-130G>C
ENST00000584865.5:n.252-130G>C
NM_000789.3:c.2306-130G>C	NP_000780.1:n.2306-130G>C
NM_001178057.1:c.584-130G>C	NP_001171528.1:n.584-130G>C
NM_152830.2:c.584-130G>C	NP_690043.1:n.584-130G>C
XM_005257110.1:c.1757-130G>C	XP_005257167.1:n.1757-130G>C
XM_006721737.2:c.644-130G>C	XP_006721800.2:n.644-130G>C
XM_006721737.3:c.644-130G>C	XP_006721800.2:n.644-130G>C
NM_000789.4:c.2306-130G>C MANE Select	NP_000780.1:n.2306-130G>C
NM_001178057.2:c.584-130G>C	NP_001171528.1:n.584-130G>C
NM_152830.3:c.584-130G>C	NP_690043.1:n.584-130G>C
NM_001382700.1:c.1739-130G>C	NP_001369629.1:n.1739-130G>C
NM_001382701.1:c.1454-130G>C	NP_001369630.1:n.1454-130G>C
NM_001382702.1:c.236-130G>C	NP_001369631.1:n.236-130G>C
NR_168483.1:n.606-52G>C